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Virchows Archiv

, Volume 472, Issue 3, pp 469–476 | Cite as

Unclassified sclerosing malignant melanomas with AKAP9-BRAF gene fusion: a report of two cases and review of BRAF fusions in melanocytic tumors

  • Emilie Perron
  • Daniel Pissaloux
  • Angela Neub
  • Daniel Hohl
  • Marie Dominique Tartar
  • Laurent Mortier
  • Laurent Alberti
  • Arnaud de la Fouchardiere
Original Article

Abstract

The current classification of melanocytic tumors includes clinical, pathological, and molecular data. A subset of lesions remains difficult to classify according to these complex multilayer schemes. We report two cases of deeply infiltrating melanomas with a sclerosing background. The first case occurred on the back of a middle-aged man appearing clinically as a dermatofibroma. The architectural and cytological aspects resembled those of a desmoplastic melanoma but the strong expression of both melanA and HMB45, two stainings usually reported as negative in this entity, raised the question of an alternate diagnosis. The second case was a large, slowly growing, perivulvar tumor in a middle-aged woman. The morphology was complex with a central junctional spitzoid pattern associating an epidermal hyperplasia with large nests of large spindled melanocytes. The dermal component was made of deeply invasive strands and nests of nevoid unpigmented melanocytes surrounded by fibrosis; a perineural invasion was present at the periphery of the lesion. In both cases, aCGH found, among many other anomalies, a chromosomal breakpoint at the BRAF locus. RNA sequencing identified in both an AKAP9-BRAF gene fusion. A complementary resection was performed and no relapses have been observed in the respectively 15 and 6 months of follow-up. Both of these melanomas remained unclassified. We further review the variety of melanocytic tumors associated with such BRAF fusions.

Keywords

Melanocytic tumors Melanoma Desmoplastic stromal reaction BRAF fusion 

Notes

Acknowledgements

Dr. Emilie Perron gratefully acknowledges the “Bourse McLaughlin du doyen de la Faculté de médecine de l’Université Laval” and the TEVA Innovation Canada fellowship grants.

Compliance with ethical standards

The study was conducted according to the Declaration of Helsinki and has been approved by the research ethics committee of the Centre Léon Bérard (Ref: L17-70).

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Département de BiopathologieCentre Leon BérardLyonFrance
  2. 2.Département de Biologie médicale, Service d’anatomopathologieCentre hospitalier universitaire de Québec-Université LavalQuébecCanada
  3. 3.Département de Biologie Moléculaire, de Biochimie Médicale et de PathologieFaculté de Médecine de l’Université LavalQuébecCanada
  4. 4.Service de Dermatologie et VénérologieCentre hospitalier universitaire vaudois (CHUV)LausanneSwitzerland
  5. 5.Service de PathologieHôpital Jean BernardValenciennesFrance
  6. 6.Service de DermatologieUniversité de Lille, INSERM U 1189, CHU LilleLilleFrance

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